Variant report

Variant	rs2074052
Chromosome Location	chr12:120196213-120196214
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10129003	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10849691	0.84[ASN][1000 genomes]
rs10849692	0.83[ASN][1000 genomes]
rs10849696	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11064884	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1122119	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12296121	0.85[ASN][1000 genomes]
rs1318272	0.96[CEU][hapmap];0.81[CHD][hapmap];0.89[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs175877	0.87[CHB][hapmap];0.98[CHD][hapmap];0.81[ASN][1000 genomes]
rs202984	0.84[ASN][1000 genomes]
rs203326	0.91[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs203327	0.83[CHB][hapmap];0.95[CHD][hapmap];0.84[ASN][1000 genomes]
rs203329	0.92[CEU][hapmap];0.91[CHB][hapmap];0.84[CHD][hapmap];0.89[GIH][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs203330	0.92[CEU][hapmap];0.95[CHB][hapmap];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs203331	0.91[CHB][hapmap];0.82[GIH][hapmap];0.86[MEX][hapmap]
rs203332	0.86[CHB][hapmap];0.84[CHD][hapmap];0.84[GIH][hapmap];0.86[MEX][hapmap]
rs203364	0.82[CHB][hapmap]
rs203366	0.86[CHB][hapmap];0.82[CHD][hapmap];0.82[GIH][hapmap];0.86[MEX][hapmap]
rs2240309	0.83[MEX][hapmap]
rs2240310	0.83[MEX][hapmap]
rs2285595	0.85[CEU][hapmap];0.83[CHB][hapmap];0.89[CHD][hapmap];0.81[GIH][hapmap]
rs278109	0.83[CHB][hapmap];0.98[CHD][hapmap];0.81[ASN][1000 genomes]
rs278110	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs278111	0.81[ASN][1000 genomes]
rs278115	0.82[ASN][1000 genomes]
rs278117	0.84[ASN][1000 genomes]
rs278118	0.84[ASN][1000 genomes]
rs278128	0.81[CHD][hapmap]
rs278130	0.81[CHD][hapmap]
rs278131	0.81[CHD][hapmap]
rs278133	0.83[CHD][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs278134	0.83[ASN][1000 genomes]
rs278136	0.83[CHD][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs278137	0.83[CHB][hapmap];0.86[ASN][1000 genomes]
rs278139	0.95[ASN][1000 genomes]
rs278141	0.86[ASN][1000 genomes]
rs278142	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2936830	0.85[CEU][hapmap];0.83[CHB][hapmap]
rs2936832	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2952403	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2952444	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2996027	0.85[CEU][hapmap];0.82[CHB][hapmap]
rs2996028	0.96[CEU][hapmap];0.82[CHB][hapmap];0.88[CHD][hapmap];0.83[GIH][hapmap];0.86[TSI][hapmap]
rs2996029	0.89[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs3213625	0.85[CEU][hapmap];0.83[CHB][hapmap]
rs3213626	0.85[CEU][hapmap];0.83[CHB][hapmap]
rs385930	0.86[CHB][hapmap];0.84[CHD][hapmap];0.82[GIH][hapmap];0.86[MEX][hapmap]
rs386259	0.86[CHB][hapmap]
rs3956827	0.81[EUR][1000 genomes]
rs402811	0.86[ASN][1000 genomes]
rs404447	0.84[ASN][1000 genomes]
rs440299	0.83[MEX][hapmap]
rs4462403	0.86[CHB][hapmap];0.84[GIH][hapmap];0.91[MEX][hapmap]
rs4766946	0.88[CEU][hapmap];0.83[CHB][hapmap]
rs4766947	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4767839	0.88[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs6490269	0.96[CEU][hapmap];0.95[CHB][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7131914	0.85[CEU][hapmap];0.83[CHB][hapmap];0.89[CHD][hapmap];0.81[GIH][hapmap]
rs7132952	0.84[ASN][1000 genomes]
rs7133437	0.84[CHB][hapmap]
rs7294387	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7299963	0.85[CEU][hapmap];0.83[CHB][hapmap];0.89[CHD][hapmap];0.81[GIH][hapmap]
rs7303046	0.83[ASN][1000 genomes]
rs7961569	0.89[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.87[GIH][hapmap];0.91[JPT][hapmap];0.82[TSI][hapmap];0.85[ASN][1000 genomes]
rs804717	0.83[MEX][hapmap]
rs904654	0.92[CEU][hapmap];0.81[CHD][hapmap];0.87[GIH][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs904655	0.82[CEU][hapmap];0.80[CHD][hapmap];0.87[GIH][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap];0.81[EUR][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2074052	TAOK3	cis	parietal	SCAN
rs2074052	LRRC43	cis	parietal	SCAN

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120116800-120201800	Weak transcription	Fetal Heart	heart
2	chr12:120143800-120211200	Weak transcription	Fetal Brain Male	brain
3	chr12:120149400-120224800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr12:120151600-120196600	Weak transcription	Gastric	stomach
5	chr12:120151800-120208400	Weak transcription	Fetal Brain Female	brain
6	chr12:120151800-120218600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr12:120154800-120209600	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr12:120156600-120221400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:120172200-120218600	Weak transcription	Fetal Kidney	kidney
10	chr12:120177600-120205200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:120178200-120205200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:120178400-120202200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:120184000-120207600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr12:120184200-120202400	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr12:120184200-120224600	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr12:120184400-120205200	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr12:120184600-120199000	Weak transcription	Primary T cells from cord blood	blood
18	chr12:120184800-120205400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr12:120185400-120200400	Strong transcription	Thymus	Thymus
20	chr12:120185400-120227200	Strong transcription	Dnd41	blood
21	chr12:120185600-120201000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr12:120185600-120202200	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr12:120185800-120201400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr12:120185800-120201600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr12:120185800-120202000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr12:120185800-120202400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr12:120185800-120214800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr12:120186000-120201200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr12:120186000-120202000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr12:120186000-120202400	Strong transcription	A549	lung
31	chr12:120186000-120214600	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr12:120186200-120205200	Strong transcription	Fetal Thymus	thymus
33	chr12:120186400-120199000	Strong transcription	Fetal Muscle Trunk	muscle
34	chr12:120186600-120202000	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr12:120186800-120198200	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr12:120187200-120209200	Weak transcription	Placenta	Placenta
37	chr12:120187400-120196800	Weak transcription	Lung	lung
38	chr12:120187600-120218600	Weak transcription	Brain Hippocampus Middle	brain
39	chr12:120187800-120211200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr12:120188000-120199400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr12:120188000-120228800	Weak transcription	HSMMtube	muscle
42	chr12:120188200-120199200	Strong transcription	H9 Cell Line	embryonic stem cell
43	chr12:120188400-120200200	Strong transcription	NHDF-Ad	bronchial
44	chr12:120188400-120205800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr12:120188400-120210600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr12:120189400-120225600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr12:120189600-120197800	Strong transcription	Brain Anterior Caudate	brain
48	chr12:120189800-120201200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:120189800-120201400	Strong transcription	Fetal Stomach	stomach
50	chr12:120190000-120204800	Weak transcription	Esophagus	oesophagus

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